Sitemap | Symptoma 25601 to 25700 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Stromal Thinning Mutation in the ERCC8 Gene No Increased Sensitivity to Oxidative Species Some Patients Have Resolution of Symptoms in First Year of Life Exaggerated Startle Response to Tactile or Acoustic Stimuli Profound Deafness Affects All Frequencies Caused by Mutation in the Guanylate Cyclase 2C Gene Esophagitis with or without Esophageal Hernia Small Bowel Obstruction due to Ileal Inflammation Small Bowel Obstruction due to Adhesions Small Bowel Obstruction due to Volvulus Electrolyte Disturbances in Infancy Metabolic Acidosis in Infancy Dehydration in Infancy Mild Chronic Early-Onset Diarrhea Meteorism - Gaseous Distention of the Stomach or Intestine Reported in Individuals of French Canadian Origin Brain MRI Shows Molar Tooth Sign Intracranial Thrombosis Severe Brachydactyly with Sparing of the Big Toe Lack of Normal Lumbar Interpediculate Flare Maxillonasal Hypoplasia Facial Dysostosis Incomplete but High Penetrance Presenting Symptoms in the Upper Body Mutation in the Mitochondrial Ribosomal Protein L3 Gene Cortical Hypergyria Mutation in the COG6 Gene No Systemic Manifestations Slow Spike-Wave Discharges Diffuse Slowing Generalized Spike-and-Slow-Waves Speech and Language Regression Deletion of 1.0-2.5MB on Chromosome 17q12 Mild Nail Hypoplasia Short Feet Long Thin Feet Long Fingers Long Thin Hands Short Arms and Legs Long Slender Arms and Legs Joint Mobility Decreased Deviation of Nasal Root Tubular Nose Horizontal Nystagmus Laterally Sparse Eyebrows Bilateral Sensorineural Hearing Loss Prominent Earlobes Hypertrichosis of Upper Lip Slight Deviation of Maxilla Mild Facial Asymmetry Liver Enzymes Elevated Thin Bladder Wall Normal Kidneys Pelvic Dilation Bilateral Ureteropelvic Junction Stenosis Hyperechogenic Kidneys or Renal Cysts on Prenatal Ultrasound Multicystic Dysplastic Kidneys Duplication of 1.0-2.5 Mb on Chromosome 17q12 Broad Toes Bilaterally Short Second Fingers Mild Brachydactyly Rotational Tongue Movements Cleft Soft Palate Large Anteverted Ears Smooth Philtrum Hypotonic Facies Unilateral Megacalicosis Axial Hypotonia Cortical Dysplasia Focal Many Features Are Present Only in an Untreated Patient Absence of Hip Ossification Centers Slow Deep Tendon Reflexes Slow Reactions Furrowed Facial Skin Thick Facial Skin Infantile Airway Compression due to Massive Aortic Aneurysm Relatively Mild Cutis Laxa and Severe Vascular Abnormalities Multiple Arterial Stenoses Venous Tortuosity Multiple Arterial Aneurysms Thickened Myocardium Severe Underdevelopment of Elastic Fibers Vascularization Increased in Upper Dermis Small Collagen Bundles Scarring Normal Contractures of Third to Fifth Fingers Generalized Joint Hypermobility Bulbous Nasal Tip Fetal Overgrowth Hypoplastic Diaphragm Onset Usually in Adulthood Nerve Conduction Velocities Only Slightly Decreased Some Patients May Have Normal Brain Imaging Caused by Mutation in the Beta Acid Glucosidase 2 Gene Low Sperm Velocity Abnormal Sperm Head Small Testicles Axonal Sensory Polyneuropathy Vibratory Sense in the Lower Limbs Decreased
